Canonical Allele Identifier: CA385810574
Gene: BBS10 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346312G>C , CM000674.2:g.76346312G>C GRCh38
NC_000012.11:g.76740092G>C , CM000674.1:g.76740092G>C GRCh37
NC_000012.10:g.75264223G>C NCBI36
NG_016357.1:g.7131C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.1673C>G MANE Select ENSP00000497413.1:p.Ser558Cys
ENST00000393262.3:c.1673C>G ENSP00000376946.3:p.Ser558Cys
NM_024685.3:c.1673C>G NP_078961.3:p.Ser558Cys
NM_024685.4:c.1673C>G MANE Select NP_078961.3:p.Ser558Cys